DisGeNET

DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.

Source Last Updated
DisGeNET July 29, 2024
Displaying entries 53926 - 53950 of 62743 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Gene Name UniProt ID
C1852438 CATARACT, COPPOCK-LIKE PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C1852438 CATARACT, COPPOCK-LIKE PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C1858679 CATARACT, AUTOSOMAL DOMINANT STS 412 steroid sulfatase P08842
C1855179 CATARACT, ANTERIOR POLAR SMPD1 6609 sphingomyelin phosphodiesterase 1 P17405
C1855179 CATARACT, ANTERIOR POLAR CHI3L1 1116 chitinase 3 like 1 P36222
C1855179 CATARACT, ANTERIOR POLAR SMC3 9126 structural maintenance of chromosomes 3 Q9UQE7
C1855179 CATARACT, ANTERIOR POLAR CYP1A1 1543 cytochrome P450 family 1 subfamily A member 1 P04798
C1855179 CATARACT, ANTERIOR POLAR ACE 1636 angiotensin I converting enzyme P12821
C1855179 CATARACT, ANTERIOR POLAR FCGR3B 2215 Fc fragment of IgG receptor IIIb O75015
C1855179 CATARACT, ANTERIOR POLAR SLC17A5 26503 solute carrier family 17 member 5 Q9NRA2
C1855179 CATARACT, ANTERIOR POLAR MBL2 4153 mannose binding lectin 2 P11226
C1855179 CATARACT, ANTERIOR POLAR SFTPD 6441 surfactant protein D P35247
C1855179 CATARACT, ANTERIOR POLAR SFTPA1 653509 surfactant protein A1 Q8IWL2
C1855179 CATARACT, ANTERIOR POLAR SFTPA2 729238 surfactant protein A2 Q8IWL1
C1855179 CATARACT, ANTERIOR POLAR SLC2A10 81031 solute carrier family 2 member 10 O95528
C1855179 CATARACT, ANTERIOR POLAR SDC4 6385 syndecan 4 P31431
C1855179 CATARACT, ANTERIOR POLAR FCN2 2220 ficolin 2 Q15485
C3888417 CATARACT 5, MULTIPLE TYPES COG4 25839 component of oligomeric golgi complex 4 Q9H9E3
C4225300 CATARACT 44 LSS 4047 lanosterol synthase P48449
C3553494 CATARACT 38 AGK 55750 acylglycerol kinase Q53H12
C3805373 CATARACT 13 WITH ADULT i PHENOTYPE GCNT2 2651 glucosaminyl (N-acetyl) transferase 2 (I blood group) Q8N0V5
C1833518 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL CPT2 1376 carnitine palmitoyltransferase 2 P23786
C1833508 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET CPT2 1376 carnitine palmitoyltransferase 2 P23786
C1833511 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE CPT2 1376 carnitine palmitoyltransferase 2 P23786
C1861861 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) ACE 1636 angiotensin I converting enzyme P12821

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